Because both the risk allele frequency and the OR were higher in Japanese than in Caucasians, the PAR% of rs13277113 was estimated to be much higher in Japanese (35.4%) than in Caucasians (16.2%), and the second highest among the 6 confirmed SLE susceptibility genes in Japanese.
The "A" allele at rs13277113 variant was associated with SSc in the U.S. series only (P = 3.6 x 10(-4), OR 1.32, 95% CI 1.1-1.6) and was significant in the combined analyses of the two series (P = 2.0 x 10(-3); OR 1.20, 95% CI 1.1-1.3).
We confirmed that SNP rs2248932 in BLK gene was significantly associated with SLE (P = 1.41 x 10(-8) for the allele frequency, Odds ratio [OR] = 0.74, 95% confidence interval (CI): 0.66-0.82).The association of BLK in Chinese SLE patients was consistent with a dominant model (P = 8.88 x 10(-9), OR = 0.69, 95% CI: 0.61-0.79).
In the present study, we have analyzed for first time the implication of rs13277113 and rs2736340 variants from the C8orf13-BLK gene region in the susceptibility to GCA.
Polymorphisms of rs13277113 in NCF2 gene were associated with arthritis and autoantibody production, but not disease risk, of SLE in Chinese population.
Polymorphisms of rs13277113 in NCF2 gene were associated with arthritis and autoantibody production, but not disease risk, of SLE in Chinese population.
On the assessment of available evidence, the authors concluded that moderate evidence exists for an association between the BLK rs13277113, rs2248932 variants and SLE.
On the assessment of available evidence, the authors concluded that moderate evidence exists for an association between the BLK rs13277113, rs2248932 variants and SLE.
Minor allele frequencies for rs13277113 revealed an association restricted to the dcSSc subtype (P = 0.012, odds ratio [OR] 1.29) in the French sample.
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.